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The evaluation and management of dermatologic diseases of the breast and nipple requires an understanding of the unique anatomy of the breast and nipple and an awareness of the significant emotional, cultural, and sexual considerations that may come into play when treating this anatomic area. The first article in this continuing medical education series reviews breast anatomy, congenital breast anomalies, and benign and malignant breast tumors. An emphasis is placed on inflammatory breast cancer and breast cancer with noninflammatory skin involvement and on cutaneous metastases to the breast and from breast cancer. Familiarity of the dermatologist with the cutaneous manifestations of breast cancer will facilitate the diagnosis of breast malignancy and assist with staging, prognostication, and evaluation for recurrence. This article also discusses genodermatoses that predispose to breast pathology and provides imaging recommendations for evaluating a palpable breast mass.

Certain dermatologic conditions are unique to the breast and nipple, whereas others may incidentally involve these structures. All require a nuanced approach to diagnosis and treatment because of the functional, sexual, and aesthetic importance of this area. The lactating patient requires special management because certain treatment options are contraindicated. All dermatologic conditions involving the breast and nipple require careful evaluation because malignancy of the breast can be mistaken for a benign condition or may trigger the development of certain dermatologic conditions. The second article in this continuing medical education series reviews common and uncommon inflammatory and infectious conditions of the breast and nipple and provides insight into both the diagnosis and the treatment of this heterogeneous group of diseases. For the purposes of this article, these conditions are divided into 4 distinct categories: 1) dermatitis; 2) radiation-induced changes; 3) mastitis; and 4) miscellaneous dermatologic conditions of the breast and nipple.

Laser treatment is a relatively new and increasingly popular modality for the treatment of many dermatologic conditions. A number of conditions that predominantly occur in women and that have a paucity of effective treatments include rosacea, connective tissue disease, melasma, nevus of Ota, lichen sclerosus (LS), notalgia paresthetica and macular amyloidosis, and syringomas. Laser therapy is an important option for the treatment of patients with these conditions. This article will review the body of literature that exists for the laser treatment of women with these medical conditions.

Porocarcinoma is a rare malignant neoplasm of the acrosyringium with metastatic potential that most commonly presents on the acral skin in older adults (mean age = 72 years). We present the case of a 43-year-old woman who developed a rapidly growing de novo porocarcinoma on the scalp with an unusual oncocytic appearance. The tumor consisted of benign eccrine poroma that arose from the epidermis and broad pushing borders with minimal cytological atypia but ample eosinophilic cytoplasm with numerous mitotic figures. Although some tumors may appear deceptively bland, the histologic recognition of pushing/infiltrative borders and mitotic figures are helpful to make the appropriate diagnosis of carcinoma. This lesion was treated with Mohs micrographic surgery and the patient remained free of recurrence after more than 2 years. It is important to recognize the eosinophilic variants of eccrine porocarcinoma because it can histologically mimic a squamous cell carcinoma. Keywords: Porocarcinoma, scalp, eosinophilic variant

Ecthyma gangrenosum (EG) is a well-described skin manifestation of Pseudomonas aeruginosa septicemia in immunocompromised patients. However, it can be seen in association with other bacteria, viruses, and fungi. We report a case of a 54-year-old African American female with metastatic gastric adenocarcinoma and recent chemotherapy and neutropenia who developed EG-like lesions due to methicillin-susceptible Staphylococcus aureus. We also review the literature to evaluate all reported cases of S aureus-associated EG and their clinical presentation, diagnosis, and treatment.

Human skin is amazing and beautiful. Like many body systems, human skin changes with increasing age. Some of these changes are intrinsic, but because our skin is what separates us from the environment we live in, our skin is also exposed to many potentially damaging environmental factors. These intrinsic and extrinsic factors put older patients at greater risk for certain skin conditions. Some of these conditions pose little medical threat and are best assessed with regard to their cosmetic impact. These conditions or findings include solar lentigines, seborrheic keratoses, seborrheic dermatitis, and rosacea.

There are a variety of skin conditions that have a predilection for older patients. The focus of this chapter is to describe the presentation, prevention, and treatment of common skin conditions with higher prevalence in older populations. In addition to those discussed in Chap. 10, we will discuss atopic dermatitis, contact dermatitis, intertrigo, drug eruptions, and autoimmune blistering dermatoses. Older patients are at greater risk for ulcers, including arterial and venous ulcers. As the skin ages, it becomes more susceptible to both benign and malignant neoplasms. Older patients are at risk for elder abuse, which can come in the form of physical, emotional, sexual abuse or neglect. There are important cutaneous signs to be aware of in the detection of all forms of abuse. Lastly, clinicians must be aware of particular ethical issues associated with the treatment and management of common skin conditions in older patients.

Breast hypoplasia has been reported in some epidermal nevus syndromes, but not with a keratinocytic epidermal nevus. Herein, we describe the first case of breast hypoplasia associated with a keratinocytic epidermal nevus. Keratinocytic epidermal nevi have been shown to be associated with somatic mutations in FGFR3, PIK3CA, and HRAS. We hypothesize that hypoplasia may be due to a local mutation in the FGFR3 gene or increased androgen receptors in affected breast tissue. The patient was treated with CO2 laser with good cosmetic outcome. Keywords: Keratinocytic epidermal nevus, ipsilateral breast hypoplasia, FGFR3

Advances in laser technology in recent decades have increased the options for the treatment of dermatologic conditions of the eye and eyelid. Benign tumors can be laser-ablated with relative ease, and vascular and melanocytic lesions can be precisely targeted with modern lasers. In this contribution, we review treatment of periocular pigmented lesions, including melanocytic nevi and nevus of Ota; vascular lesions including telangiectasias, port wine stains, and infantile hemangiomas; hair removal; eyeliner tattoo removal; laser ablation of common benign periocular tumors, such as syringomas, xanthelasma, milia, and seborrheic keratoses; and laser resurfacing. The recent advent of fractionated laser technology has resulted in dramatically decreased healing times for periocular skin resurfacing and fewer adverse effects. Fractionated laser resurfacing has now nearly supplanted traditional full-field laser resurfacing, and safe treatment of rhytides on the thin skin of the eyelids is possible. Proper eye protection is, of course, essential when using lasers near the eye. Patient preparation, safety precautions, and risks--intraocular and extraocular--are discussed herein. As laser technology continues to advance, we are sure to see improvements in current treatments, as well as development of new applications of cutaneous lasers.

Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. This manuscript will explain and depict some genetic skin diseases that occur in both humans and domestic animals and offer a connection and memorization aid for physicians. In addition, we will explore how animal diseases serve as a model to uncover the mechanisms of human disease. The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.

Importance Nonsexual acute genital ulceration (NAGU) is a rare vulvar skin condition typically affecting girls and young women, characterized by acute onset of singular or multiple painful vaginal ulcers. The etiology of this ulcerative dermatosis has not been identified, although it has been associated with systemic infections. To our knowledge, this is the first report of an association with Lyme disease. Observations A case of a woman with early disseminated Lyme disease presenting with NAGU is reported. A thorough workup ruled out other causes of genital ulceration, and the ulcers completely resolved after treatment with topical steroids and oral doxycycline. Conclusions and Relevance Although the etiology of NAGU is unknown, the vulvar ulcers may result from an exuberant immune response to infection. Most patients with NAGU exhibit nonspecific symptoms such as myalgias and fever, suggesting an infectious agent, but the majority have no identifiable pathogen. In addition to previously reported associations with systemic infection, which are reviewed herein, Lyme disease should be considered in women presenting with acute-onset genital ulcers.

G.Y. Wu et al. (eds.), Atlas of Dermatological Manifestations of Gastrointestinal Disease, DOI 10.1007/978-1-4614-6191-3_46, © Springer Science+Business Media New York 2013 Clinical signs and features include: Neurocutaneous syndrome: variable phenotype characterized • by the development of multiple hamartomas throughout the body [ 1 ] Classically presents with seizures, mental retardation, • facial angio fi bromas (this triad is found in only 29% of cases) [ 1 ] Incidence is about 1:6,000–1:10,000, although it is hard • to calculate as individuals with mild or asymptomatic disease may never be diagnosed [ 1 ] Manifests in the brain (cortical tubers, subendymal • nodules, and giant cell astrocytomas leading to seizures and mental retardation), kidney (angiomyolipoma), lung (lymphangiomyomatosis), heart (rhabdomyoma), and eyes (retinal hamartomas) [ 1 ] Cutaneous features are present in nearly 100% of patients • and include [ 1 ] : Facial angio fi bromas: red to pink papules/nodules with – a smooth, glistening surface, symmetrically and bilaterally distributed over the centrofacial areas sparing the central upper lip and appearing at 2–5 years of age in 75–85% of patients and may grow rapidly during puberty ( see Fig. 46.1 ) Large hypomelanotic macules (ash leaf spot): 1–2 cm – in diameter lesions that occasionally are more round or polygonal than “leaf” shaped; these are often the earliest visible signs of the condition as usually present at birth; they are present on 97% of affected persons Confetti-like lesions: 1–3 mm white macules, sym – metrically distributed over the extremities and appear in adulthood in about 3% of cases; Shagreen patches and plaques present in 50% of cases, increase in number and size with age, and are found on the dorsal body, especially the lumbosacral area. These have a rough texture resembling an orange peel Ungual/periungual fi bromas: fi rst develop at puberty, – affect 15% of cases, and appear as red/skin-colored papules that arise from the lateral nail grove, plate, and folds; forehead fi brous plaques: yellow to brown to skin-colored large, soft, doughy plaques with variable size and shape that may appear at any age and affect nearly 20% of patients ( see Fig. 46.1 ) Pathogenesis of this genetic disease involves: Autosomal dominant inheritance, although two thirds of • cases are from sporadic mutation [ 1 ] Two tuberous sclerosis genes: • TSC2 : 16p13.3 (more severe phenotype); TSC1 : 9q34 Two proteins—tuberin and hamartin—form a tight • binding relationship that regulates cell growth and tumor genesis by inhibiting mTOR, a cell cycle regulating protein, GAP portion of TSC1 / TSC2 protein is the site of mutations that results in tuberous sclerosis (TS) [ 1 ] Tuberous Sclerosis: Dermatological Features

G.Y. Wu et al. (eds.), Atlas of Dermatological Manifestations of Gastrointestinal Disease, DOI 10.1007/978-1-4614-6191-3_34, © Springer Science+Business Media New York 2013 Clinical signs and features include: Also known as Osler-Weber-Rendu disease • Eighty percent present as spontaneous epistaxis [ • 1 ] Arteriovenous malformations (AVMs) occur throughout • the body including the gastrointestinal (GI) tract, lungs, liver, brain/spinal cord Cutaneous lesions start to appear in adulthood and • increase with age [ 1 ] Lesions appear as small macular telangiectasia that are • 1–2 mm in diameter and blanch [ 1 ] Telangiectasia commonly occur on lips, tongue, palate, • face (sun-exposed areas), nares, ears, conjunctiva, chest, hands, and feet (see Fig. 34.1 ) [ 1 ] Fingertips can develop painful ulcers from the • telangiectasia Pathogenesis of this disease involves: Autosomal dominant mutations: hereditary hemor• rhagic telangiectasia (HHT)1, mutation in ENG on chromosome 9; HHT2, mutation in ACRVL1 / ALK1 on chromosome 12; HHT3, mutation on chromosome 5q; HHT4, mutation on chromosome 7p; HHT with juvenile polyposis, mutation of SMAD4 ; HHT2 with primary pulmonary hypertension, mutation of BMPRII on chromosome 2 [ 2, 3 ] Mutations lead to aberrant response to transform ing • growth factor beta (TGFb ) family signals for angiogenesis Ultimately signal errors cause blood vessels to mature • inappropriately Histopathological features include: Initially see dilatation post-capillary venules • Ultimately dilated post-capillary venules enlarge and • connect with arterioles eliminating capillary bed Vessels are often thin walled and surrounded by fi brosis • A perivascular lymphocytic in fi ltrate may also be noted • around involved vessels The diagnosis is made using a combination of: Curacao criteria: (1) epistaxis; (2) telangiectasias at • characteristic sites; (3) visceral AVMs in GI tract/liver/ lungs/brain/spinal cord; (4) family history: de novo mutation is rare and the disease has a nearly 100% penetrance by age 40 [ 4 ] If • £ 3 of above, HHT can be diagnosed; if £ 2, HHT is suspected; if only 1, HHT is unlikely In children with a parent who has HHT, cannot rule out • HHT until genetic tests con fi rm no mutation [ 2 ] Genetic testing reveals mutation in 80–90% of cases • The differential diagnosis should include: Von Willebrand disease • Treatment options include [ 4 ] : Mostly cosmetic for cutaneous lesions • Long-pulsed Nd: YAG (neodymium-doped yttrium alu• minum garnet) laser is effective Skin grafts effective for painful ulcerations on • fi ngertips Hereditary Hemorrhagic Telangiectasia: Dermatological Features

G.Y. Wu et al. (eds.), Atlas of Dermatological Manifestations of Gastrointestinal Disease, DOI 10.1007/978-1-4614-6191-3_24, © Springer Science+Business Media New York 2013 Clinical signs and features include [ 1 ] : Bluish venous hemangiomas (referred to as “vascular • nevi” of the skin) Visceral hemangiomas involving most commonly the • gastrointestinal (GI) tract GI hemorrhage • Cutaneous lesions are compressible venous heman• giomas or malformations often on the trunk or upper extremities Often present at birth or develop in early childhood • Three types of cutaneous lesions: Large dis fi guring lesions that can obstruct vital organs – Most commonly, crumpled blue rubber nipple-like – lesions covered with skin ( see Fig. 24.1 ) Irregular blue-black macules or papules that may – blanch with pressure Cutaneous lesions mostly asymptomatic • Can cause increased sweating over lesion due to eccrine • gland association with hemangiomas May be painful due to contraction of smooth muscle fi bers • within the vascular walls composing the hemangioma Large acral hemangiomas can cause angiomatous • giantism and deformity that has lead to amputation or can cause chronic disseminated intravascular coagulation [ 2 ] There appears to be correlation between number of • cutaneous hemangiomas and presence of visceral hemangiomas [ 3 ] Pathogenesis of this disease involves: Unclear; may be related to chromosome 9p mutation [ • 1 ] Appears to have autosomal dominant pattern of inheri• tance although there are sporadic cases Histopathological features include: Venous hemangioma composed of clusters of dilated • irregular capillary spaces lined by a thin layer of endothelial cells ( see Fig. 24.2 ). Smooth muscle may be seen within some of the vascular walls. A varied amount of fi brous tissue will surround the vessel • walls Eccrine sweat glands are frequently seen intimately • related to vascular structures The diagnosis is made using a combination of: Complete blood count/iron studies to check for anemia • GI workup for occult bleeding • The differential diagnosis should include: Sturge-Weber syndrome • von Hippel-Lindau syndrome • Cobb’s syndrome • Klippel-Trenaunay syndrome • Parkes-Weber disease • Maffucci’s syndrome • Treatment options include: Cutaneous lesions mostly treated for cosmetic effect • Sclerosis with alcohol [ • 1 ] Laser ablation with carbon dioxide laser irradiation • Excision of dis fi guring/functionally disabling lesions • Blue Rubber Bleb Nevus Syndrome: Dermatological Features

Von Hippel–Lindau (VHL) syndrome occurs in 1/36,000 live births and typically presents before age 40 years. The disease progresses with multiple tumors and death in the fourth decade of life.

G.Y. Wu et al. (eds.), Atlas of Dermatological Manifestations of Gastrointestinal Disease, DOI 10.1007/978-1-4614-6191-3_56, © Springer Science+Business Media New York 2013 Clinical signs and features include: Rare dermatitis that occurs mostly in patients with • a -cell tumor of the pancreas (glucagonoma) that usually occurs in the fi fth to sixth decade and presents with frequency of 1:20,000,000 persons/year [ 1 ] Rash comes in waves of irregular erythematous lesions with • visible scale with subsequent necrosis and crusting of the epidermis in the center of the lesions leading to bullae [ 2 ] Central healing ultimately occurs giving the lesions an • annular appearance; the process for development to healing is about 2 weeks Predilection for intertriginous sites and areas subject to • pressure and frictions [ 2 ] (e.g., perineum, groin, buttocks, lower abdomen, and lower extremities) ( see Fig. 56.1 ) Often superinfected with • Staphylococcus aureus and Candida Albicans Lesions tend to be highly pruritic; occasionally associ• ated with stomatitis, glossitis, angular cheilitis, and nail changes [ 2 ] Can be related to multiple endocrine neoplasia (MEN)-1 • or MEN-2 (rare) By diagnosis, 50–100% have metastatic tumor but • although it is incurable the slow-growing tumor is unlikely to cause death [ 3 ] May also occur in absence in the pseudoglucagonoma • syndrome in which there is an absence of a pancreatic tumor. Causes include liver disease, malabsorption, in fl ammatory bowel disease, and other malignancies [ 1, 2 ] May occur secondary to glucagon cell adenomatosis [ • 4 ] Pathogenesis of this disease is unclear but hypotheses include: Possibly due to increased level of glucagon in blood: sug• gested by the apparent correlation of decreased symptom severity with decreased glucagon (via tumor resection or administration of somatostatin analogues); against this, however, is that patients with nonglucagonoma disease do not always have elevated glucagon [ 3 ] Nutritional de fi ciency: similar histology to other • de fi ciencies; improvement in patients given amino acids, zinc, and fatty acids; glucagon may stimulate pathways leading to hypovitaminosis B (symptoms have many features of vitamin B de fi ciencies) and low levels of free fatty acids and amino acids [ 3 ] Liver disease may lead to decreased hepatic degradation • of glucagon and hypoalbuminemia. Hypoalbuminemia can then cause a decrease in zinc and essential fatty acid levels [ 1, 2 ] Histopathological features include: Classic: necrolysis of stratum spinosum (“sudden death”) • with intracellular edema and keratinocyte degeneration (dyskeratosis and necrosis) leading to subcorneal/midepidermal clefts and bullae; psoriasiform epidermal hyperplasia with con fl uent parakeratosis; hypergranulosis with pallor of the epidermis; often a lymphohistiocytic in fi ltrate around the dilated vessels in the edematous papillary dermis ( see Fig. 56.2 ) The diagnosis is made using a combination of: Evidence of glucagonoma: hyperglucagonemia, glucose • intolerance, weight loss, normocytic anemia, malaise, Necrolytic Migratory Erythema

G.Y. Wu et al. (eds.), Atlas of Dermatological Manifestations of Gastrointestinal Disease, DOI 10.1007/978-1-4614-6191-3_32, © Springer Science+Business Media New York 2013 Clinical signs and features include: Malignant acanthosis nigricans, sign of Leser–Trelat, and • tripe palms are often found together Malignant acanthosis nigricans is rare: in total, world• wide, only 1,000 reported cases [ 1 ] Involves symmetric hyperpigmented plaques with – variable amounts of epidermal hypertrophy, creating a velvety texture; ranges in color from yellow to gray/ black; often has overlying scaling/papillomas (if extensive then cutaneous papillomatosis) Progressive—generally advances with cancer, begins – with increased pigmentation and advances to hypertrophy with accentuation of the skin lines; maybe associated with pruritus Most commonly found on fl exural areas, posterior neck, – or mucosally (particularly the mouth) ( see Fig. 32.1 ) Tripe palms

G.Y. Wu et al. (eds.), Atlas of Dermatological Manifestations of Gastrointestinal Disease, DOI 10.1007/978-1-4614-6191-3_54, © Springer Science+Business Media New York 2013 Clinical signs and features include: Affects 1:10,000–1:50,000 persons; begins in childhood • and worsens after puberty, although severity lessens after the sixth decade of life [ 1 ] Characterized by recurrent swelling attacks of the face, • abdomen, extremities, genitalia, oropharynx, and/or larynx without urticaria and typically unilateral, nonpruritic, nonpitting, uncomfortable but painless (see Fig. 54.1 ) Fifty percent of patients have an episode of laryngeal edema • at some point with a mortality rate as high as 30% [ 1 ] When affecting the gastrointestinal (GI) tract, attacks • present with severe abdominal pain, nausea, vomiting, and diarrhea Without treatment, patients experience swelling episodes • every 7–14 days [ 1 ] . Swelling episodes generally worsen for 12–36 h, peak, and then improve in 2–3 days [ 1 ] Aura/prodromal symptoms such as tingling, headache, mood • changes, and anxiety are common and may be followed by erythema marginatum. This nonpruritic rash is characterized by serpiginous, slightly raised borders and affects the trunk and inner surfaces of the extremities. Attacks of angioedema may have triggers (trauma, especially dental procedures, surgery, menstruation, oral contraceptives, hormone replacement therapy, angiotensin-converting enzyme [ACE] inhibitors, infection, stress) but they often occur without an inciting event. Associated with autoimmune diseases, particularly glom• erulonephritis, systemic lupus erythematosus, Sjogren syndrome, thyroiditis [ 2 ] Pathogenesis of this disease involves: Autosomal dominant: 75% with a family history, 25% • spontaneous mutations; mutation on chromosome 11; signi fi cant variability in penetrance [ 3 ] Functional de fi ciency of C1 esterase inhibitor (C1-Inh) • results in increased bradykinin formation Histopathological features include: Edema of deep dermis and underlying subcutaneous fat, • fascia, muscles Separation of collagen bundles due to the edema ( see • Fig. 54.2 ) Vascular dilation with wide endothelial cell gaps and • extravasation of vascular contents Scant mononuclear cells perivascularly but a paucity of • immune cells compared with an allergic reaction Erythema marginatum: perivascular and interstitial neu• trophils with lymphocytes but without vasculitis; dense deposits of bradykinin in stromal and endothelial tissue seen via immuno fl uorescence [ 4 ] The diagnosis is made using a combination of: Clinical signs: attacks aggravated by estrogen and unre• sponsive to corticosteroids, antihistamines, and epinephrine Measurement of complement levels [ • 5 ] : Type 1 (85% of cases): C1-Inh de fi ciency; decreased – C1-Inh antigen; C4 decreased between and during attacks Type 2 (15% of case): C1-Inh functional abnormality; – C1-Inh antigen normal to increased; C4 decreased between and during attacks Type 3 occurs primarily in women and is often estro – gen dependent; C1-Inh levels and function are normal; C4 and other complement levels are normal; factor XII mutation may be present Hereditary Angioedema: Dermatological Features

Atopic dermatitis, a chronic disease with no cure, currently affects almost one-fifth of the population of industrialized nations. Treatment can be challenging for physicians and patients alike. Children are commonly affected, making it even more difficult to find safe therapeutic options, especially in severe disease. Interest in diet and nutrition has increased during the last few years. Nutritional interventions are both intriguing and accessible for many patients. Given the recent expansion of the field of nutrition in the realm of medicine and in popular culture, it is important for the dermatologist to be knowledgeable about the risks and benefits of nutritional interventions. This contribution reviews the current literature on the role of nutrition in atopic dermatitis, from dietary restriction to dietary supplementation, from traditional interventions such as vitamins and minerals to the emerging fields of probiotics and essential fatty acids, and from the prenatal period through infancy and adulthood.